Canonical Allele Identifier: CA902134
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1052287
ClinVar RCV Id: RCV001360438 RCV001831202
dbSNP Id: rs559975684
ExAC: 1:68895517 C / T
gnomAD v2: 1-68895517-C-T
gnomAD v3: 1-68429834-C-T
gnomAD v4: 1-68429834-C-T
MyVariant Identifiers: chr1:g.68895517C>T (hg19) chr1:g.68429834C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429834C>T , CM000663.2:g.68429834C>T GRCh38
NC_000001.10:g.68895517C>T , CM000663.1:g.68895517C>T GRCh37
NC_000001.9:g.68668105C>T NCBI36
NG_008472.1:g.25126G>A
NG_008472.2:g.25126G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1544G>A MANE Select ENSP00000262340.5:p.Arg515Gln
ENST00000262340.5:c.1544G>A ENSP00000262340.5:p.Arg515Gln
NM_000329.2:c.1544G>A NP_000320.1:p.Arg515Gln
XM_017002027.1:c.1268G>A XP_016857516.1:p.Arg423Gln
NM_000329.3:c.1544G>A MANE Select NP_000320.1:p.Arg515Gln
Search 100 bp 5'
Search 100 bp 3'